PGS Preprint: PGP000582

Publication Information (EuropePMC)
Title Distinctive cross-ancestry genetic architecture for age-related macular degeneration
doi 10.1101/2022.08.16.22278855
Publication Date Aug. 21, 2022
Journal medRxiv Preprint
Author(s) Gorman BR, Voloudakis G, Igo RP, Kinzy T, Halladay CW, Bigdeli TB, Zeng B, Venkatesh S, Cooke Bailey JN, Crawford DC, Markianos K, Dong F, Schreiner P, Zhang W, Hadi T, Anger MD, Stockwell AD, Melles RB, Yin J, Choquet H, Kaye R, Patasova K, Patel PJ, Yaspan BL, Jorgenson E, Hysi PG, Lotery AJ, Gaziano JM, Tsao PS, Fliesler SJ, Sullivan JM, Greenberg PB, Wu W, Assimes TL, Pyarajan S, Roussos P, Peachey NS, Iyengar SK, VA Million Veteran Program, International AMD Genomics Consortium (IAMDGC).
Released in PGS Catalog: Feb. 20, 2024

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS004606
(AMD-IAMDGC-EUR)
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Age-related macular degeneration age-related macular degeneration 1,000,946
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004606/ScoringFiles/PGS004606.txt.gz
PGS004607
(AMD-MVP-AFR)
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Age-related macular degeneration age-related macular degeneration 1,067,520
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004607/ScoringFiles/PGS004607.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM020767 PGS004606
(AMD-IAMDGC-EUR)
 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Reported Trait: Age-related macular degeneration OR: 1.76 [1.73, 1.78] AUROC: 0.71 — age, sex, principal components 1-10 —
PPM020768 PGS004607
(AMD-MVP-AFR)
 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Reported Trait: Age-related macular degeneration OR: 1.48 [1.34, 1.63] AUROC: 0.65 — age, sex, principal components 1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS011398 ICD-9-CM codes 362.51 or 362.52; ICD-10-CM codes H35.31 or H35.32 —
[
  • 32,567 cases
  • , 130,444 controls
]
,
97.0 % Male samples
 — European — MVP —